Type |
Details |
Score |
Genotype |
Symbol: |
Frem1/Frem1 |
Background: |
involves: AKR/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Grip1/Grip1 |
Background: |
involves: ATEB/Le * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Frem2/Frem2 |
Background: |
STOCK Frem2/GrsrJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: 129S1/Sv * 129X1/SvJ * NMRI |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Frem2/Frem2 |
Background: |
C57BL/6J-Frem2 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: C57BL/6JAnu |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Frem2/Frem2 |
Background: |
MY/HuLeJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Frem3/Frem3 |
Background: |
involves: C57BL/6NJcl * DBA/2NJcl |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: C57BL/6J * FVB/NJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
FREM1 (FRAS1-related extracellular matrix protein 1) is an extracellular matrix protein that forms a ternary complex in the basement membrane with FRAS1 and FREM2 during epidermal development []. FREM1 also appears to act as a dermal mediator of basement membrane adhesion independently of the FRAS1 []. Mutations in the FREM1 gene cause two rare syndromes - bifid nose with or without anorectal and renal anomalies syndrome (BNAR; OMIM #608980) and Manitoba oculotrichoanal syndrome (MOTA; OMIM #248450) - whose phenotypic characteristics overlap those seen in individuals with Fraser syndrome []. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: 101/H * C3H/HeH |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Frem1/Frem1 |
Background: |
C57BL/6J-Frem1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Pavlakis E |
Year: |
2011 |
Journal: |
Int J Biochem Cell Biol |
Title: |
The role of Fras1/Frem proteins in the structure and function of basement membrane. |
Volume: |
43 |
Issue: |
4 |
Pages: |
487-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kiyozumi D |
Year: |
2020 |
Journal: |
Exp Anim |
Title: |
Genetic mutation of Frem3 does not causeFraser syndrome in mice. |
Volume: |
69 |
Issue: |
1 |
Pages: |
104-109 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Smyth I |
Year: |
2004 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. |
Volume: |
101 |
Issue: |
37 |
Pages: |
13560-5 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
415
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Richardson RJ |
Year: |
2014 |
Journal: |
J Invest Dermatol |
Title: |
AMACO is a component of the basement membrane-associated Fraser complex. |
Volume: |
134 |
Issue: |
5 |
Pages: |
1313-1322 |
|
•
•
•
•
•
|
Publication |
First Author: |
Slavotinek AM |
Year: |
2011 |
Journal: |
J Med Genet |
Title: |
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. |
Volume: |
48 |
Issue: |
6 |
Pages: |
375-82 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2123
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2127
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2191
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2172
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2173
|
Fragment?: |
false |
|
•
•
•
•
•
|